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AssigneesFred Hutchinson Cancer Center, University of Rochester, Leiden University Medical Center
InventorsSilvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J.L.F. Lemmers, Linda Geng, Lauren Snider
Estimating the term…
In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.
A method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising:
A method of screening a human subject to determine if said subject is at risk for developing, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising:
An isolated polynucleotide probe or primer for use in a screening assay for the presence or risk of FSHD, wherein the polynucleotide probe or primer has a length of from at least 10 nucleotides to 200 nucleotides and specifically hybridizes to a nucleic acid molecule having a sequence at least 95% identical to the sequence set forth in nucleotides 7516 to 8671 of SEQ ID NO:5, or the complement thereof, which encompasses a portion of the DUX4 intron 2 and exon 3 to the end of the pLAM sequence in FJ439133.
A kit for determining susceptibility or presence of FSHD in a mammalian subject based on the detection of a polymorphism in the polyA signal adjacent Exon 3 of DUX 4 in chromosome 4, said kit comprising:
A method of treating a mammalian subject suffering from, or at risk for developing Facioscapulohumeral Dystrophy (FSHD), the method comprising administering to the mammalian subject an agent capable of inhibiting or suppressing the level of DUX4-fl expression, or an agent capable of inhibiting DUX4-fl mediated transcription activation in a population of cells in the mammalian subject.
Dependencies are inferred from the claim text.